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Center for Jewish Genetics blog

The Sarnoff Center is starting a year-long Community Needs Assessment to learn how Jewish and interfaith families in Illinois engage with genetic health topics. By speaking with community members and community leaders, we hope to learn about community strengths, identify gaps, and assess opportunities.
We will use this information to develop ongoing programming and educational opportunities to increase knowledge of Jewish genetic disorders, including recessive conditions and hereditary cancers.

Interested in getting involved? We are looking for both community members and community leaders to lend their voices to this process. Community members including families, young adults, and individuals in mid-life can tell us what they do and don’t understand about Jewish genetic health
topics. Community leaders can share information about their organizations and ideas for future health-related programming.

Interfaith couples and individuals with any Jewish ancestry are encouraged to participate. Having just one Jewish great-grandparent puts a family at increased risk for Jewish genetic disorders.

Participants will complete a short survey and choose to have a one-on-one interview with our community health educator or be part of a focus group. Interviews take 30-45 minutes and focus groups can last from 60-90 minutes. All participants will receive
refreshments or a $5 Starbucks gift card as a thank you for their contributions.

By sharing your experiences and encouraging your friends and family to do so as well, you will contribute to the health of our community. We will be seeking new participants through spring 2018.

Throughout the year, we will be providing updates on the findings of the Community Needs Assessment. We look forward to learning from you!

The Sarnoff Center's carrier screening program now screens for more than 190 recessive conditions, including more than 50 that are disproportionately common among Ashkenazi and Sephardic Jews. We are currently the only program in Illinois to offer
this new expanded Jewish panel.

Women going through our carrier screening program are also screened for 12 X-linked conditions, including Fragile X syndrome. Men are not screened for X-linked disorders since it is highly unlikely for males to be carriers for these conditions without showing symptoms. Learn more about the conditions on the panel.

The affordable, accessible screening program uses advanced technology to provide comprehensive screening for Jewish and interfaith couples. Our genetic counselor is available as
a resource to anyone navigating the carrier screening process.

The Sarnoff Center has previously cautioned that
direct-to-consumer genetic tests, such as those sold by 23andMe, provide
incomplete and potentially misleading information about health risks. Now, 23andMe
ancestry testing is also raising eyebrows for telling some users with Ashkenazi
Jewish heritage that they descended from an extinct tribe in Central Asia
rather than the region now known as Israel in the Middle East.

Forward.com
ran a breaking news story last week explaining how the report impacts Jewish
identity on both a personal level and a societal level. The idea that Jews
descended from the nomadic Khazar tribe, known as the Khazar theory, has been
discredited by geneticists and historians alike.

23andMe has since removed the theory from genetic reports.

Our takeaway? Ancestry testing can provide valuable
information to help users connect with long-lost relatives. And, while some
users may also gain insight into their family’s possible geographic origins
through ancestry testing, we recommend proceeding with caution. Test results
may provide unexpected – or in this case, even unfounded – information.

In 1978, our son Art
was diagnosed with "generalized dystonia." My wife, Barbara, and I were pleased
to have a diagnosis after a three-year search, but devastated to learn the
possible progression of this movement disorder. Dystonia is a condition in
which muscles contract by themselves, and they often contract too much. When
dystonia affects broad regions of the body, it is known as generalized
dystonia. Dystonia is one of the disorders more common in the Jewish
community.

We didn't know where
to turn. Luckily we found the Dystonia Medical Research Foundation. The education and support we received from this patient advocacy group
was and remains invaluable.

In 1999, I and a few
others founded the Center for Jewish Genetics (now the Norton & Elaine
Sarnoff Center for Jewish Genetics). We founded the Center with the goal of
educating the Jewish community about Jewish genetic disorders and helping
carriers of these disorders to understand their family planning options. Later,
we added subsidized genetic screening.*

One in four
Ashkenazi Jews is a carrier of one of 19 recessive genetic disorders seen more
frequently in the Jewish population, but most do not know it. Science has now
developed ways that we can test for these 19 disorders – and many others – with
a simple saliva test. The Center’s genetic counselor delivers results to every
participant in our carrier screening program and can help carrier couples
understand their options and plan for a healthy family. Our goal is to empower
individuals with the knowledge to make informed decisions.

When the Center was
founded, there was no technology available that would allow our son Art and his
wife Wendy to be sure their natural born children would not inherit the genetic
mutation that causes dystonia. Since the time of their marriage, medical
science has developed new technology called PGD (Pre-implantation Genetic
Diagnosis) to help couples like them avoid this situation. Thanks to the work
that was done by the Dystonia Medical Research Foundation in discovering the
gene responsible for dystonia, and with the assistance of PGD, Art and Wendy
have given birth to two children who do not carry mutations in the gene
associated with dystonia.

We have stopped
dystonia from being passed on to subsequent generations in our family.

That is how the work
of the Center has changed the lives of my children and grandchildren as well as
hundreds of families. We are "Changing Jewish History," one family at a time.
It is an honor to be part of such an important endeavor.

* Dystonia
is an autosomal dominant condition that occurs with increased frequency in the
Jewish community. Screening for dystonia is not currently available through the
Center’s carrier screening program, which focuses on autosomal recessive and
X-linked conditions. If you have questions or would like additional
information, please contact our genetic counselor.

We were pleased to hear the Sarnoff Center’s friend Bonnie
Rochman featured on The Longest Shortest Time, a popular parenting podcast. In
a recent episode about “Genetic Future-Telling,” Bonnie and podcast host and
creator Hillary Frank explore genetic testing, family planning, and parenthood.
Their conversation about carrier screening and genetic health is particularly
relevant to our community, which faces an increased risk of certain recessive
disorders and BRCA mutations. While we applaud the show for bringing attention
to these important topics, we want to provide listeners with additional
information and clarification on a few points:

Today, carrier screening
can be done with a saliva sample using Next Generation Sequencing to
provide the most accurate detection rates. Many people who receive carrier
screening complete it from the comfort and convenience of their own home
by mailing a saliva sample to a laboratory as part of a screening program.
This eliminates the need for a blood draw in many cases.

Who should be screened and
when? Ideally, individuals should receive carrier screening prior to
pregnancy. Couples who know their carrier status beforehand have the most
options when planning for a family. Even those who choose not to alter
their family planning approach may benefit from knowledge that can help
them prepare if a future child needs early intervention. While the podcast
mainly focuses on carrier screening for women, men should also consider
screening as part of family planning.

Hillary and Bonnie touch
on the fact that BRCA mutations significantly increase the risk of breast
cancer in both men and women. Another key part of the message: BRCA
mutations also significantly increase the risk of other cancers, most
notably ovarian cancer in women and pancreatic cancer in men and women.
BRCA mutations are 10 times more common among Jewish and interfaith
families than the general population.

You can listen to the August 9 episode here.
Already listened? We’d love to hear your thoughts on the conversation.

If you have questions about genetic health, please contact
the Norton & Elaine Sarnoff Center for Jewish Genetics to learn more about
available resources or speak with our genetic counselor.

What is the most valuable gift you can give to your family? The gift of good health! There are many health conditions that run in families. Knowing your family health history can alert you to the potential risk for a variety of
genetic disorders
. Talk to your relatives for warning signs and
assess your risk
for hereditary cancers.

Did you know: Ashkenazi Jews are 10 TIMES more likely to have BRCA mutations, which significantly increases lifetime risks for hereditary cancers, so what does this heightened risk mean for you?
Click here to learn more
.